Variant position: 2867 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 3056 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human EKRLAYTRSVATSSIVGYIL GLGDRHVQNILINEQSAELVH
Mouse EKRLAYTRSVATSSIVGYIL GLGDRHVQNILINEQSAELVH
Pig ERRLAYTQSVATSSIVGYIL GLGDRHVQNILINEQSAELVH
Caenorhabditis elegans QKIINYRQSLATWSIVCYIV GLGDRHASNILFDQKLCTFVH
Drosophila ERRLAYTNSVATTSMVGYVL GLGDRHTQNILVDQQTAEVIH
Baker's yeast EAKKTYTKGVAASSIVGYIL GLGDRHLNNILLDCSTGEPIH
Fission yeast TTQTNYARSTAVASVLGHVL GLGDRHGQNILIDKTSGEVIH
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
New mutations in the ataxia telangiectasia gene.
Baumer A.; Bernthaler U.; Wolz W.; Hoehn H.; Schindler D.;
Hum. Genet. 98:246-249(1996)
Cited for: VARIANT AT ARG-2867;
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
Sandoval N.; Platzer M.; Rosenthal A.; Doerk T.; Bendix R.; Skawran B.; Stuhrmann M.; Wegner R.-D.; Sperling K.; Banin S.; Shiloh Y.; Baumer A.; Bernthaler U.; Sennefelder H.; Brohm M.; Weber B.H.F.; Schindler D.;
Hum. Mol. Genet. 8:69-79(1999)
Cited for: VARIANTS AT SER-570; CYS-785; GLY-1913; GLY-2016; ASP-2067; CYS-2227; ASP-2470; VAL-2662 DEL; PRO-2849 AND ARG-2867; VARIANTS CYS-49; LEU-858; ARG-1054; ASN-1853 AND VAL-1853;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.